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The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia : a rare skeletal disorder resembling SFRP4-related Pyle disease
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Clinical genetics - ISSN 0009-9163-105:4 (2024) p. 434-439
Negative molecular diagnostics in non-syndromic hearing loss : what next?
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Genes - ISSN 2073-4425-14:1 (2023) p. 1-15
Targeted next-generation sequencing in children with bilateral sensorineural hearing loss : diagnostic yield and predictors of a genetic cause
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Otology and neurotology - ISSN 1531-7129-44:4 (2023) p. 360-366
varAmpliCNV : analyzing variance of amplicons to detect CNVs in targeted NGS data
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Bioinformatics - ISSN 1367-4803-31:1 (2023) p. 1-8